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DO Term : familial hypocalciuric hypercalcemia 3 [DOID:0060702] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.

synonyms:
hypocalciuric hypercalcemia type III,
GARD:2878,
FHH type 3,
600740,
ORDO:101050,
familial hypocalciuric hypercalcemia type 3,
ICD10CM:E83.5,
HHC3,
OMIM:600740

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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